Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population

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Winbo, Annika,1978-Umeå universitet,Pediatrik (author)

Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population

Article/chapterEnglish2009

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Philadelphia, PA :Lippincott Williams & Wilkins,2009
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LIBRIS-ID:oai:DiVA.org:umu-32464
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-32464URI
https://doi.org/10.1161/CIRCGENETICS.108.825547DOI

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Language:English
Summary in:English

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Background: A 10% cumulative incidence and a 0.3% per year incidence rate of sudden cardiac death in patients younger than 40 years and without therapy have been reported in type 1 long-QT syndrome. The Y111C-KCNQ1 mutation causes a severe phenotype in vitro, suggesting a high-risk mutation. This study investigated the phenotype among Y111C-KCNQ1 mutation carriers in the Swedish population with a focus on life-threatening cardiac events.Methods and Results: We identified 80 mutation carriers in 15 index families, segregating the Y111C-KCNQ1 mutation during a national inventory of mutations causing the long-QT syndrome. Twenty-four mutation carriers <40 years experienced syncope (30%). One mutation carrier had an aborted cardiac arrest (1.25%). No case of sudden cardiac death was reported during a mean nonmedicated follow-up of 25±20 years. This corresponds to a low incidence rate of life-threatening cardiac events (0.05%/year versus 0.3%/year, P=0.025). In 8 Y111C families connected by a common ancestor, the natural history of the mutation was assessed by investigating the survival over the age of 40 years for 107 nonmedicated ascertained mutation carriers (n=24) and family members (n=83) born between 1873 and 1968. In total, 4 deaths in individuals younger than 40 years were noted: 1 case of noncardiac death and 3 infant deaths between 1873 and 1915.Conclusions: The dominant-negative Y111C-KCNQ1 mutation, associated with a severe phenotype in vitro, presents with a low incidence of life-threatening cardiac events in a Swedish population. This finding of discrepancy emphasizes the importance of clinical observations in the risk stratification of long-QT syndrome.

Subject headings and genre

death
sudden
genetics
ion channels
long-QT syndrome
survival
MEDICINE
MEDICIN

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Diamant, Ulla-BrittUmeå universitet,Medicin,Pediatrik(Swepub:umu)uldi0001 (author)
Stattin, Eva-LenaUmeå universitet,Medicinsk och klinisk genetik(Swepub:umu)evst0015 (author)
Jensen, Steen MUmeå universitet,Medicin(Swepub:umu)stje0001 (author)
Rydberg, AnnikaUmeå universitet,Pediatrik(Swepub:umu)anry0014 (author)
Umeå universitetPediatrik (creator_code:org_t)

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In:CirculationPhiladelphia, PA : Lippincott Williams & Wilkins2:6, s. 558-5641942-325X1942-3268

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